Details of Disease

General Information of Disease (ID: DISAXKZN)

• Disease Name: Familial thyroid dyshormonogenesis 1
• Synonyms: TDH1; iodine accumulation, transport, or trapping defect; thyroid dyshormonogenesis type 1; hypothyroidism, congenital, due to dyshormonogenesis, 1; thyroid hormonogenesis, genetic defect in, 1; thyroid dyshormonogenesis 1
• Disease Hierarchy:
  DISWR94R: Inherited thyroid metabolism disease
  DISALTXN: Familial thyroid dyshormonogenesis
  DISAXKZN: Familial thyroid dyshormonogenesis 1
• Disease Identifiers:
  MONDO ID: MONDO_0020716
  MESH ID: C564766
  UMLS CUI: C1848805
  OMIM ID: 274400
  MedGen ID: 336422

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC5A5	TTW7HI9	moderate	Biomarker	[1]
TPO	TT52XDZ	Strong	GermlineCausalMutation	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A5	DTZAH46	Definitive	Autosomal recessive	[3]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DUOX2	OTU14HCN	Strong	GermlineCausalMutation	[2]
DUOXA2	OT7AZBZJ	Strong	GermlineCausalMutation	[2]
IYD	OT8BQWTE	Strong	GermlineCausalMutation	[2]
TG	OT3ELHIJ	Strong	GermlineCausalMutation	[2]

References

• [1] MicroRNAs let7 expression in thyroid cancer: correlation with their deputed targets HMGA2 and SLC5A5.J Cancer Res Clin Oncol. 2016 Jun;142(6):1213-20. doi: 10.1007/s00432-016-2138-z. Epub 2016 Mar 9.
• [2] Genetic causes of congenital hypothyroidism due to dyshormonogenesis.Curr Opin Pediatr. 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4.
• [3] Congenital hypothyroidism caused by defective iodide transport. J Pediatr. 1985 Jun;106(6):950-3. doi: 10.1016/s0022-3476(85)80249-3.